Varaico: Literature-Extracted Genetic Variants

Gene:GABRD
Variant:p.V312I
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GABRD

NM_000815.5:p.V312I

Associated Papers

Algorithmic assessment reveals functional implications of GABRD gene variants linked to idiopathic generalized epilepsy.

Arslan A

The International Journal of Neuroscience, 2025

38289414 (PubMed )
Supplement: supplement_1.zip › S2.xlsx › 82_nsSNPs_ClinVar

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J et al.

Molecular Genetics & Genomic Medicine, 2019

30809968 (PubMed )
Supplement: MGG3-7-e605-s002.xlsx › Supp_Table2__Missense_variants_
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